Septal atrial thrombosis as a primary presentation of antiphospholipid syndrome in a patient with ANA-negative systemic lupus erythematosus: a case report.

Introduction and importance: Systemic lupus erythematosus (SLE) predominantly affects young women and is associated with an increased risk of thrombosis. Antiphospholipid antibody syndrome (APS) may complicate the clinical picture, often leading to recurrent arteriovenous thrombosis. This case report underscores the significance of two unique aspects: the rare occurrence of an atrial thrombus and the presence of antinuclear antibody (ANA)-negative SLE. Case presentation: A 32-year-old woman presented with a history of symmetric polyarticular joint pain, oral ulcers, significant weight loss, and a history of unprovoked popliteal thrombosis and two unexplained abortions. One week prior to admission, she experienced severe headaches and elevated blood pressure. Clinical evaluation revealed several abnormalities, including a systolic murmur, livedo reticularis, and a transthoracic echocardiogram showing severe mitral regurgitation and an atrial thrombus. A transesophageal echocardiogram confirmed the presence of a pedunculated lesion in the right atria, challenging differential diagnosis. Clinical discussion: ANA-negative SLE, though rare, was observed in this patient, highlighting diagnostic complexities. APS compounded the clinical presentation, emphasizing the importance of identifying specific autoantibodies and recurrent thrombotic events. In the case of atrial thrombus, differentiation from other cardiac conditions, such as myxoma or vegetation, is a key. Conclusions: This case underscores the critical importance of recognizing and managing atrial thrombus, a rare but life-threatening complication in patients with systemic lupus erythematosus and antiphospholipid syndrome. Additionally, the diagnostic challenge of ANA-negative SLE warrants careful consideration in patients presenting with characteristic features of the disease.

Small bowel obstruction in a 29-year-old male with congenital peritoneal bands: A rare case report from Syria.

This case highlights the significance of maintaining clinical suspicion for CPBs in adults presenting with SBO. Early surgical intervention, offering both diagnosis and treatment, is essential for managing this rare cause of SBO. Increased clinical awareness of CPBs will help ensure they are considered in the differential diagnosis of adult patients with bowel obstruction.

A 23-year-old patient with bilateral hypoplastic thumbs and toes: A case report.

Key Clinical Message: However, it is noteworthy that certain patients with minor functional limitations in their hand may have experienced undiagnosed thumb hypoplasia during their childhood years. These individuals may have successfully adapted to their condition without seeking medical intervention and may express a preference for nonintervention (as in this case). Abstract: Thumb hypoplasia is a congenital underdevelopment of the thumb, accounting for 5%-15% of congenital hand disorders. It occurs equally among both genders and can affect both thumbs. The condition is categorized using Blauth's classification with Type I being the mildest form. We report a 23-year-old Syrian male presented with a bilateral restriction in opposition movement when using a pen or razor. Clinical examination and x-ray imaging revealed a bilateral Type I hypoplastic thumb with bilateral minimal hypoplasia of the toes. Despite the surgical treatment options available, the patient opted not to undergo surgery due to his adaptation to his condition. Hypoplastic thumb Type I is a congenital condition characterized by underdevelopment of the thumb. Bilateral thumb hypoplasia with toes hypoplasia is extremely rare. A full systemic evaluation should be done due to its associations with other syndromic manifestations and treatment options are discussed concerning the best functional outcomes and patient preferences.

Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H syndrome: the first case report from Syria.

BACKGROUND: The nucleoside transport capabilities of the human equilibrative nucleoside transporter-3 (hENT3) are disrupted by mutations in SLC29A3 (10q22.2), which are genes for the nucleoside transporter and are the cause of the unusual autosomal recessive disease known as H syndrome. As a result, histiocytic cells invade a number of organs. CASE PRESENTATION: A 17-year-old Syrian male was admitted to the internal medicine department with a one-month history of polyuria, polydipsia, general weakness, and pallor. He had a history of progressive bilateral sensorineural hearing loss and failure to gain weight for three years. Physical examination revealed various abnormalities, including scrotal mass, small penis and testicles, absence of pubic and axillary hair, joint abnormalities, short stature, hallux valgus, fibrous protrusion near the navel, and hyperpigmented non-itchy painful skin plaques. Clinical signs along with laboratory test results confirmed hyperglycemia, primary hypogonadism, osteopenia, and growth hormone deficiency. After a review of the relevant medical literature, this patient's presentation of hyperglycemia with hypogonadism, hyperpigmentation, hallux valgus, hearing loss, hematological abnormalities, and short stature suggested the diagnosis of H syndrome. The patient received treatment with insulin and testosterone, leading to a significant improvement in his presenting symptoms. CONCLUSIONS: H syndrome is a very rare condition, and the fact that the first case has only recently been reported in Syria serves to emphasize how rare it is. H Syndrome should be suspected if a patient has short stature with signs of hyperglycemia and other endocrine and cutaneous abnormalities. We are reporting this case to increase physicians' awareness of this exceedingly rare and unique syndrome.

Idiopathic granulomatous mastitis with extramammary manifestations: a case report.

Introduction and Importance: Granulomatous mastitis is a rare inflammatory disorder of the breast, which can be either idiopathic or due to secondary etiology. This disease affects women of reproductive age. The exact pathophysiology underlying idiopathic granulomatous mastitis (IGM) remains unclear, but it is believed to be mediated by immunological processes. Establishing a diagnosis of this condition could be challenging due to the long list of differential diagnoses that it creates. Case Presentation: We report a 24-year-old Syrian female presented to the clinic complaining of a 2-week history of fatigue, fever and chills, swelling, and localized pain in her left breast. Physical examination revealed erythema nodosum, episcleritis, and arthralgia in the wrists, ankles, and elbows. An excisional biopsy was done and a microscopic examination of the lesion confirmed granulomatous perilobular mastitis. Symptoms had resolved after the surgical excision and follow-up evaluation showed no signs of recurrence. Clinical Discussion: IGM typically presents as an enlarging breast mass that can be mistaken for breast cancer or an abscess. The diagnostic approach should consider the presence of extramammary symptoms such as fever, arthralgia, and fatigue. Treatment options include corticosteroids, surgical excision, or steroid-sparing agents, but relapse rates vary. Conclusions: Episcleritis should be considered as a potential extramammary manifestation in cases of IGM. We highlight the importance of recognizing and investigating the potential systemic involvement in patients with IGM. Accurate interpretation of pathological and radiological findings by a multidisciplinary breast team can facilitate the diagnosis and reduce unnecessary interventions.

Uremic encephalopathy manifesting with a unique MRI finding (the lentiform fork sign) in an adult male: A case report.

A novel radiologic sign in patients with renal failure and uremic encephalopathy (UE) with metabolic acidosis has recently been identified as the lentiform fork sign. On magnetic resonance imaging (MRI), the "lentiform fork sign" has been described as bilateral symmetrical hyperintensities in the basal ganglia encircled by a hyperintese rim delineating the lentiform nucleus. Changes in uremic solute retention, aberrant blood-brain barrier transport, disordered vascular reactivity, altered electrolyte and acid-base balance, and altered hormone metabolism are the most likely causes of the condition. A 56-year-old male with end-stage renal disease was brought to the emergency room for a progressive change in mental status and involuntary arm movements over the previous 5 days, which were accompanied by mild dyspnea. A brain MRI was performed, and it revealed hyperintensity on T2/FLAIR in the white matter surrounding the basal ganglia. the patient was treated with dialysis and improved greatly. Intensified hemodialysis and glycemic control are the cornerstones of treating diabetic uremic syndrome (DUS) with likely reversible clinical symptoms and remission of imaging abnormalities.

Locally advanced non-small cell lung cancer: current issues and recent trends.

The focus of this paper was to review and summarise the current issues and recent trends within the framework of locally advanced (LA) non-small cell lung cancer (NSCLC). The recently proposed 8th tumour-node-metastases (TNM) staging system exhibited significant amendments in the distribution of the T and M descriptors. Every revision to the TNM classification should contribute to clinical improvement. This is particularly necessary regarding LA NSCLC stratification, therapy and outcomes. While several studies reported the superiority of the 8th TNM edition in comparison to the previous 7th TNM edition, in terms of both the discrimination ability among the various T subgroups and clinical outcomes, others argued against this interpretation. Synergistic cytotoxic chemotherapy with radiotherapy is most prevalent in treating LA NSCLC. Clinical trial experience from multiple references has reported that the risk of locoregional relapse and distant metastasis was less evident for patients treated with concomitant radiochemotherapy than radiotherapy alone. Nevertheless, concern persists as to whether major incidences of toxicity may occur due to the addition of chemotherapy. Cutting-edge technologies such as four-dimensional computed tomography (4D-CT) and volumetric modulated arc therapy (VMAT) should yield therapeutic gains due to their capability to conform radiation doses to tumours. On the basis of the preceding notion, the optimum radiotherapy technique for LA NSCLC has been a controversial and much-disputed subject within the field of radiation oncology. Notably, no single-perspective research has been undertaken to determine the optimum radiotherapy modality for LA NSCLC. The landscape of immunotherapy in lung cancer is rapidly expanding. Currently, the standard of care for patients with inoperable LA NSCLC is concurrent chemoradiotherapy followed by maintenance durvalumab according to clinical outcomes from the PACIFIC trial. An estimated 42.9% of patients randomly assigned to durvalumab remained alive at five years, and free of disease progression, thereby establishing a new benchmark for the standard of care in this setting.

Feasibility and Safety of Goel-Harms Posterior C1-C2 Fusion in the Management of Pediatric Reducible Atlantoaxial Instability.

BACKGROUND: Pediatric atlantoaxial instability (AAI) is not common and could be a serious clinical condition. The Goel-Harms technique is one of the most used techniques in adults and needs more evaluation in pediatric populations. This study reports the feasibility and safety of the Goel-Harms technique in the treatment of pediatric reducible AAI. METHODS: In this retrospective cohort study we reported all pediatric patients who underwent Goel-Harms technique for AAI with a minimum 1-year follow up. Patients were clinically assessed using the Japanese Orthopedic Association (JOA) score and radiologically with plain radiographs, computed tomography scan, and magnetic resonance imaging of the craniocervical region. Postoperatively, patients were followed up according to our clinical and radiographic imaging protocol. The following parameters were recorded: JOA score, construct stability, fusion, and abnormal events. RESULTS: A total of 25 patients have completed a 1-year follow-up and fulfilled our criteria. The mean age was 10.68 ± 4.47 (range, 3-17) years. Fifteen patients were male and 10 were female. The final diagnosis included Down syndrome (DS) in 8, type II dens fracture in 7, os odontoideum in 3, and atlantoaxial rotatory fixation in 7. The mean follow-up was 21.76 ± 8.22 months. The preoperative JOA score improved from 15.96 ± 1.46 to 16.76 ± 1.92 at the last follow-up. Sound bone fusion was reported in 92% of patients. CONCLUSIONS: Our data suggest that the Goel-Harms technique is a safe, feasible, and effective procedure in managing pediatric reducible AAI. Special perioperative care should be offered to young AAI patients with DS.

Lumbar dermoid cysts: 3 illustrative cases and a total review of the literature of the last two decades.

Spinal dermoid cysts are relatively infrequent tumors generally associated with a benign course. Here we describe three cases and analyzed the 109 cases of lumbar dermal cysts described in the literature in the last 20 years. We report a pediatric patient with a dermoid cyst posterior to a lumbar surgery for myelomeningocele repair with bad evolution; and two adult patients with the affection of the motor and autonomic function with good surgical outcomes. In approximately half of the reviewed cases, it was reported at least one complication. In fact, two cases had a fatal outcome. We discuss relevant characteristics of these lesions and those aspects probably associated with complications and bad outcomes.

Optimal tumour control for early-stage non-small-cell lung cancer: A radiobiological modelling perspective.

A fully heterogeneous population tumour control probability (TCP) model, based on the linear-quadratic (LQ) cell survival concept combined with the Poisson statistic, was established to predict local tumour control after one, two and three years. This TCP model was created using data from 16 publications that reported on early-stage non-small-cell lung cancer (NSCLC) treated using either three-dimensional conformal radiation therapy (3D-CRT), continuous hyperfractionated accelerated radiotherapy (CHART) or stereotactic ablative body radiotherapy (SABR). The TCP model was fitted to the clinical outcome data using optimised radiosensitivity values produced by the Nelder-Mead simplex algorithm. The statistical analysis resulted in R2 values of 0.96, 0.96 and 0.97 and wRMSE values of 3.9%, 5.2% and 5.9% for one-, two- and three-year local tumour control rates, respectively. The TCP models for one, two and three years were internally validated using a bootstrap resampling approach. The mean R2 and 95% CI for the bootstrap samples were 0.98 (0.93-0.99), 0.98 (0.95-0.99) and 0.98 (0.96-0.99) for the one-, two- and three-year local tumour control rates, respectively. Variations in the TCP with clonogenic density were then further investigated by introducing a new mathematical model to vary the clonogenic cell and radiation dose distribution across the treated volume. Based on the above model, it was estimated that 60% of the dose was sufficient to maintain the TCP after two years for the areas with lower clonogenic cell density. If externally validated, this lower-dose treatment plan could have beneficial effects on the surrounding healthy tissue without negatively affecting tumour control.